In a variant of Tay Sachs Disease, called Tay-Sachs AB Variant, the GM2 Activator is the deficient enzyme, GM2 gangliosides still accumulate, and the symptoms are the same as Tay-Sachs.
- In Tay-Sachs Disease, a lysosomal storage disesea in which a faulty gangliosidase leads to the accumulation of glycolipid in neurons, causing death during childhood.
- Tay Sachs disease causes mental retardation and blindness. Tay Sachs is caused by the loss of hexosaminidase A, a lysosomal enzyme that catalyzes the biodegradation of gangliosides (fatty acid derivatives).
Reference:
1. Ganong's Review of Medical Physiology: 23rd Edition. Kim E. Barrett et al. McGraw-Hill Publishing. 2010.
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